KEGG DISEASE: Transcobalamin II deficiency

KEGG

DISEASE: Transcobalamin II deficiency

Entry

H01190                      Disease

Name

Transcobalamin II deficiency

Description

Transcobalamin (TC) II deficiency is a rare autosomal recessive disorder of vitamin B12 (cobalamin, Cbl) transport that leads to intracellular Cbl depletion with secondary impairment of methionine synthetase and methyl-malonyl CoA mutase activities. This disorder presents with failure to thrive, mucosal ulceration, vomiting, diarrhoea, lethargy, irritability, and occasionally immunological dysfunction. Affected individuals may suffer from long-term neurological sequelae if therapy with intramuscular hydroxocobalamin is not initiated promptly. Mutations in the TCN2 gene are known to cause.

Category

Inherited metabolic disorder

Brite

Human diseases in ICD-11 classification [BR:br08403]
03 Diseases of the blood or blood-forming organs
  Anaemias or other erythrocyte disorders
   Nutritional or metabolic anaemias
    3A01  Megaloblastic anaemia due to vitamin B12 deficiency
     H01190  Transcobalamin II deficiency
Pathway-based classification of diseases [BR:br08402]
Cofactor/vitamin metabolism
  nt06538  Cobalamin transport and metabolism
   H01190  Transcobalamin II deficiency

Pathway

Vitamin digestion and absorption

Network

nt06538 Cobalamin transport and metabolism

Gene

TCN2 [HSA:6948] [KO:K14619]

Other DBs

ICD-11:

ICD-10:

OMIM:

Reference

Authors

Schiff M, Ogier de Baulny H, Bard G, Barlogis V, Hamel C, Moat SJ, Odent S, Shortland G, Touati G, Giraudier S

Title

Should transcobalamin deficiency be treated aggressively?

Journal

J Inherit Metab Dis 33:223-9 (2010)
DOI:10.1007/s10545-010-9074-x

Reference

Authors

Ratschmann R, Minkov M, Kis A, Hung C, Rupar T, Muhl A, Fowler B, Nexo E, Bodamer OA

Title

Transcobalamin II deficiency at birth.

Journal

Mol Genet Metab 98:285-8 (2009)
DOI:10.1016/j.ymgme.2009.06.003

Reference

Authors

Prasad C, Rosenblatt DS, Corley K, Cairney AE, Rupar CA

Title

Transcobalamin (TC) deficiency--potential cause of bone marrow failure in childhood.

Journal

J Inherit Metab Dis 31 Suppl 2:S287-92 (2008)
DOI:10.1007/s10545-008-0864-3

LinkDB

» Japanese version

DBGET integrated database retrieval system